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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(E1803K +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Oto-palato-digital syndrome, type II
+4 more
GPathogenic
FLNA
(S1199L)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GPathogenic/Likely pathogenic
FLNA
(A1188T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
FLNA
(D1184E)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
Gnot provided
FLNA
Indel
(splice acceptor variant +1 more)
Cardiac valvular dysplasia, X-linked
GPathogenic
FLNA
(H743P)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
Gnot provided
FLNA
Single nucleotide variant
(synonymous variant)
FLNA-related periventricular nodular heterotopia
+5 more
GConflicting classifications of pathogenicity
FLNA
(P637Q)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
GPathogenic
FLNA
(G288R)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
GPathogenic
FLNA
(T23fs)
Microsatellite
(frameshift variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
GPathogenic
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